2. Case 1
A 8 year male
h/o recurrent respiratory tract infections and shortness
of breath.
h/o recurrent respiratory tract infections - first 2years of
life.
c/o Shortness of breath Class II since then, no H/o PND
and orthopnea.
No history suggestive of heart failure or failure to thrive
or difficulty in feeding.
No h/o cyanotic spells or squatting.
No h/o pedal edema, syncope , palpitations.
Born out of non consanguinous marriage,
no h/o similar complaints in the family.
3. On examination
Height- 132cm
Weight- 32kg ,
Central cyanosis.
BP -110/70 mm Hg.
Pulse - 96/min,regular,normal volume & character,no
radioradial or radiofemoral delay
RR -20/min
Afebrile
4. Cardiovascular System
JVP – normal in height and wave pattern.
Inspection and Palpation:
Apex is RV type ,
Grade 3/3 parasternal pulsations+,
Palpable pulsations in left 2nd ICS,
Systolic thrill in left 2nd ICS.
No palpable heart sounds
Auscultation:
S1- Normal
S2-single,normal.
No S3,S4,additional sounds;
A 4/6 Ejection Systolic murmur in left 2nd ICS,harsh, crescendo -
decrescendo, increases with inspiration.
A 2/4 Early Diastolic Murmur,low pitched,crescendo-decrescendo
murmur heard in 2nd and 3rd LICS.
7. 2D ECHO
Situs solitus,levocardia
Two atria,two ventricles.
Normal Atrioventricular &Ventriculoarterial concordance
Normally related great arteries.
Intact IAS
Large sub aortic VSD with predominant Left to Right shunt
Aortic override of 40%.
Absent pulmonary valve.
Moderate pulmonary annular stenosis of gradient –
55/34mm Hg with severe pulmonary regurgitation.
Non Confluent PAs, Dilated Right pulmonary arteries and
absent left Pulmonary Artery.
Left aortic arch,
No PDA , Coarctation of Aorta.
8. Catheterisation
8 year male,Ht-132 cm, wt-32 kg, BMI- 18.36 Kg/m²
BSA -1.08m2 Hb-13.1gm/dl, O2 conc - 142 ml/min/m² .
Catheter course:
Rt FV--- IVC --- RA --- RV --- RPA --- PCW.
Rt FA --- AO --- LV , Rt FA --- AO --- LPA.
PRESSURE DATA in mm Hg
Femoral Artery --- 110/70 (85).
RA --- 6.
RV--- 95/0-8.
RPA---32/11(21), LPA--- 40/25(30).
PCWP---10.
LV --- 100/0-8.
MPA to RV --- 50 mm hg.
LPA to Aorta – 70 mm hg
SATURATION DATA in %
SVC--- 60
IVC--- 64.2
MV02--- 61.05
RA--- 64.2
RV--- 75.2
PA--- 75.9
FA--- 93.4
LV - 94
10. Case 2
A 15 year,male
diagnosed as having CHD at 1 year of age.
h/o bluish discoloration of lips noticed since the age of
1 year.
h/o recurrent LRTI till the age of 2yrs.
No h/s/o CHF or failure to thrive or difficulty in feeding.
No h/o cyanotic spells or squatting.
c/o SOB – class II since 5yrs.
Born out of Non-consanguinous marriage.
Normal perinatal History,normal milestones.
1 younger sibling – Normal.
11. On examination
Child is moderately built and moderately nourished.
Mild Cyanosis+
Grade II clubbing+
Pulse – 86/min,regular,normal volume,normal
character,no radioradial or radiofemoral delay.
BP – 106/70 mm Hg
JVP – normal.
12. CVS
RV apex,
Left parasternal pulsations+
PA palpable.
No palpable sounds
Auscultation :
S1 – normal
S2 – single
ESM – 3/6, harsh, occupying 50% of systole,best
heard at Lt. 2nd ICS
MDM – crescendo-decrescendo,low frequency at Lt.
2nd ICS
no additional murmurs over the precordium.
22. Introduction
In 1847 - Cheevers,first described the combination of
absent pulmonary valve,VSD,annular stenosis,and
dilation of the pulmonary trunk and its branches.
Reconfirmed by Roger et al in 1908 and Kurtz et al in
1927.
Incidence - 2.4% - 6.8%.
Pulmonary valve tissue –
◦ Completely absent
◦ Rudimentary remnants of avascular myxomatous connective
tissue.
Rarely occurs with absence of pulmonary artery usually
Left pulmonary artery and with systemic to pulmonary
artery collaterals.
Cheevers N: Retrecissement congenital de l'orifice pulmonaire.
Arch Med Fourth Series 15: 488, 1847
23. Salient features
Obstruction to right ventricular outflow – at narrow
pulmonary annulus, not at the malaligned infundibular
septum.
Pulmonary trunk, especially its proximal branches
dilates aneurysmally along with the infundibulum.
Diastolic collapse of the central pulmonary arteries
occurs after each systole, diastolic flow is accelerated
by the elastic recoil of the proximal pulmonary arteries.
Tufts of pulmonary arteries are entwined among the
compressed intrapulmonary bronchi.
Volume overload from pulmonary regurgitation and
pressure overload from the annular stenosis.
Ductus arteriosus is usually absent.
24.
25.
26. Natural history
Respiratory distress (tracheobronchial obstruction)
RV failure
Symptoms may improve due to tracheobronchial maturation
Early cyanosis – Right to left shunt because of increased
PVR.
Later increased PBF situation with decreased PVR.
50% die in the 1st year of life if untreated, and most
in the few months of life, from the respiratory distress
Such patients also have heart failure with large shunt
with decreased systolic function.
Patients who survive infancy, generally do well for
time being,and ultimately die from intractable right
heart failure.
Usually associated with deletion of 22q11.2
chromosome (DiGeorge syndrome)
27. Cardiol Young. 2004 Aug;14(4):402-8.
Clinical presentation, natural history, and outcome of patients with the
absent pulmonary valve syndrome.
Zucker N1, Rozin I, Levitas A, Zalzstein E.
Retrospectively data from 18 patients.
10 boys and 8 girls, treated between March 1983 and May 2003.
Two groups of patients, 11 patients - ventricular septal defect (TOF
type),another group with 7 patients - an intact ventricular septum.
Family history of CHD was common only in patients with ventricular septal
defect, being found in 73%, all of whom were diagnosed during infancy
with variable respiratory distress.
Diagnosis was delayed in 43% of the patients with an intact ventricular
septum.
Cardiac surgery was performed in 8 pts with VSD(73%), 2 pts (28%) with
an intact ventricular septum.
Overall mortality was 28%, with five patients dying.
Patients with a VSD and TOF phenotype have a strong family history of
congenital cardiac disease, develop respiratory symptoms during infancy
and exhibit a variable prognosis, despite cardiac surgery.
Patients with an intact ventricular septum are usually asymptomatic,
present later in life, and show a relatively benign prognosis.
28. Variant of tetralogy of fallot with absent pulmonary valve leaflets and origin of
one pulmonary artery from the ascending aorta
A.Louise Calder, MD From the Green Lane Hospital, Auckland, New Zealand
AJC
Absent pulmonary valve leaflets and anomalous origin of a
pulmonary artery from the ascending aorta have been reported as
separate lesions associated with tetralogy of Fallot but not in
combination.
The clinical, radiologic and pathologic findings are presented in
three patients with this previously undescribed combination.
A search of the literature for similar cases revealed 233 patients
with absent pulmonary valve leaflets and 56 patients with
anomalous origin of a pulmonary artery from the ascending aorta;
these cases are reviewed.
Although 17 patients with absent pulmonary valve leaflets and
tetralogy of Fallot also had absence of the proximal portion of the
left pulmonary artery, none had an anomalously arising pulmonary
artery from the ascending aorta.
In the reviewed cases, anomalous origin of the right pulmonary
artery from the ascending aorta was more frequent than that of the
left pulmonary artery (44 compared with 12 cases, respectively),
but the latter was more often associated with tetralogy of Fallot.
July 1980Volume 46, Issue 1, Pages 106–116
29. Normal relation of trachea and great arteries
In absent PV syndrome
In hypertensive dilated pulmonary arteries
Due to enlarged left atrium
30. Clinical features
JVP elevated in parallel with the elevated RV filling
pressures.
“A” wave is prominent,when there is TR – the v wave
increases.
Dynamic RV impulse.
Dilated infundibulum – left 3rd ICS
Dilated pulsatile pulmonary trunk in left 2nd ICS.
Systolic thrill – due to augmented RV ejection through
hypoplastic pulmonary annulus.
Diastolic thrill – due to accelerated flow by recoil of
the dilated pulmonary arteries.
31. Auscultation
S1- Normal
Pulmonary ejection sound and pulmonary component
of S2 – absent.
A2 is muted by anterior interposition of the dilated
pulmonary trunk.
MSM – loud,harsh and long – large RV stroke volume
is ejected across the narrow annulus into a dilated
pulmonary trunk.
Distinct gap between A2 and the diastolic murmur of
PR.
Sawing wood murmur or to and fro murmur.
32. ECG
P wave – tall and peaked.
QRS axis – rightward
RVH
Tall monophasic R wave in V1 extends to the adjacent
precordial leads (isolated TOF – confined to lead V1).
X RAY
Pulmonary trunk and proximal pulmonary arteries dilate
massively.
Infundibular dilation –hump shaped shadow on left
side.
Right lower cardiac silouhetter –right atrium
RV –forms the apex.
Pulmonary vascularity is normal
Emphysema,hyperinflation and atelectasis .
33. Dilated main pulmonary artery an
proximal pulmonary arteries
Pulmonary vascularity is normal
Dilated RA RV apex
Compression of the trachea by dilated pulmonary artery
37. MANAGEMENT
Prone positioning of the infant – dilated pulmonary
arteries fall forward,relieve the obstruction on trachea.
Intubation and positive pressure ventilation
Surgical options:
No clear consensus of which is best.
1.intracardiac repair of TOF in conjunction with plication
and reduction of the pulmonary arteries where
necessary.
◦ Reduction of the pulmonary arteries – removal of tissue from
either their anterior or posterior walls.
◦ Suspending LPA to anterior chest wall – relevies the pressure
on the bronchi.
38. 2.Le Compte maneuver – transect the ascending
aorta during repair and move the right PA anterior to
it,away from the tracheobronchial tree.
valved RV- PA conduit
Stenting the airway.
Preprocedural ventilation - highest surgical mortality
Post procedure:
Recurrent respiratory tract infections
Wheezing
39.
40.
41.
42.
43. Conclusion
TOF with absent pulmonary valve is a rare entity.
Aneurysmally dilated proximal pulmonary arteries cause
compression of the trachea and bronchus.
Intially cyanosis,later present with CHF.
Usual presentation in infancy.
Ductus arteriosus is usually absent.
ECG – RAD.RVH
X ray – cardiomegaly,dilated pul.arteries with normal
pulmonary vascularity.
Intracardiac repair is definitive and resection of the
dilated arteries and position of a RV – PA conduit.
Respiratory complications are common post surgically.
